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Disease on EC 4.2.1.2 - fumarate hydratase

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DISEASE
TITLE OF PUBLICATION
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Acidosis
Extracellular Acidosis Modulates the Expression of Epithelial-Mesenchymal Transition (EMT) Markers and Adhesion of Epithelial and Tumor Cells.
Acquired Immunodeficiency Syndrome
Post-translational Modifications of Fumarase Regulate its Enzyme Activity and Function in Respiration and the DNA Damage Response.
Acute Kidney Injury
Fumarase activity: an in vivo and in vitro biomarker for acute kidney injury.
Adenocarcinoma
Inactivation of metabolic enzymes by photo-treatment with zinc meta N-methylpyridylporphyrin.
Adenoma, Oxyphilic
Mitochondrial complex I is deficient in renal oncocytomas.
Adenomatous Polyposis Coli
Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors.
Adenomyoma
MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas.
Adrenocortical Adenoma
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Anemia, Sickle Cell
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Angiomyolipoma
Chromophobe renal cell carcinoma: current and controversial issues.
Ataxia
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Ataxia Telangiectasia
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Biliary Atresia
Fumarase Deficiency Associated With Non-Inflammatory Biliary Atresia.
Brain Diseases
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Molecular and biochemical investigations in fumarase deficiency.
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
Structural basis of fumarate hydratase deficiency.
Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.
Brain Diseases, Metabolic
Infantile Metabolic Encephalopathy Due to Fumarase Deficiency.
Breast Neoplasms
No evidence for promoter region methylation of the succinate dehydrogenase and fumarate hydratase tumour suppressor genes in breast cancer.
Transketolase regulates the metabolic switch to control breast cancer cell metastasis via the alpha-ketoglutarate signaling pathway.
carboxypeptidase t deficiency
Mitochondrial myopathies.
Carcinogenesis
Bioinformatics analysis and expression study of fumarate hydratase in lung cancer.
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
Genetically-defined metabolic reprogramming in cancer.
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.
Metabolic changes in cancer: beyond the Warburg effect.
Perturbations in hypoxia detection: A shared link between hereditary and sporadic tumor formation?
Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer.
Suppression of fumarate hydratase activity increases the efficacy of cisplatin-mediated chemotherapy in gastric cancer.
TCA Cycle Defects and Cancer: When Metabolism Tunes Redox State.
The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase.
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Carcinoma
"Collecting duct carcinoma of the kidney: diagnosis and implications for management".
A Case of Metastatic Fumarate Hydratase-Deficient-like Renal Cell Carcinoma Successfully Managed by Ipilimumab plus Nivolumab.
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma.
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients.
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Changes induced by Ehrlich ascites carcinoma in hepatic fumarase and aconitase activities.
Chromophobe renal cell carcinoma: current and controversial issues.
Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples.
Commentary on: "Comprehensive molecular characterization of papillary renal-cell carcinoma." Cancer Genome Atlas Research Network.: N Engl J Med. 2016 Jan 14;374(2):135-45.
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.
CUL3 and NRF2 Mutations Confer an NRF2 Activation Phenotype in a Sporadic Form of Papillary Renal Cell Carcinoma.
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis.
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.
Fumarate hydratase-deficient renal cell carcinoma cells respond to asparagine by activation of the unfolded protein response and stimulation of the hexosamine biosynthetic pathway.
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation.
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma.
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Hereditary leiomyomatosis and renal cell carcinoma.
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Histopathological analysis of aggressive renal cell carcinoma harboring a unique germline mutation in fumarate hydratase.
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female.
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Multifocal Renal Cell Carcinomas With Somatic IDH2 Mutation: Report of a Previously Undescribed Neoplasm.
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Novel mutation in the fumarate hydratase gene in a patient with Reed syndrome.
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc.
Pseudohypoxic pathways in renal cell carcinoma.
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Re-evaluation of 33 "Unclassified" Eosinophilic Renal Cell Carcinomas in Young Patients.
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
The genetic basis of cancer of the kidney.
The genetics of uterine leiomyomata: what clinicians need to know.
The proto-oncometabolite fumarate binds glutathione to amplify ROS-dependent signaling.
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase: A case report.
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
[Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].
[FH-deficient renal cell carcinoma expands the spectrum of renal papillary tumors].
[Hereditary kidney cancers: The pathologist's view in 2020].
Carcinoma, Basal Cell
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Carcinoma, Medullary
"Collecting duct carcinoma of the kidney: diagnosis and implications for management".
Carcinoma, Papillary
mTORC1-driven accumulation of the oncometabolite fumarate as a potential critical step in renal cancer progression.
Carcinoma, Renal Cell
"Collecting duct carcinoma of the kidney: diagnosis and implications for management".
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.
A Case of Metastatic Fumarate Hydratase-Deficient-like Renal Cell Carcinoma Successfully Managed by Ipilimumab plus Nivolumab.
A case report of hereditary leiomyomatosis and renal cell cancer.
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma.
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients.
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Bioorthogonal oncometabolite ligation.
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Chromophobe renal cell carcinoma: current and controversial issues.
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples.
Co-opting a Bioorthogonal Reaction for Oncometabolite Detection.
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.
Conventional renal cancer in a patient with fumarate hydratase mutation.
CUL3 and NRF2 Mutations Confer an NRF2 Activation Phenotype in a Sporadic Form of Papillary Renal Cell Carcinoma.
Cutaneous leiomyomatosis in a mother and daughter.
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Direct and quantitative analysis of altered metabolic flux distributions and cellular ATP production pathway in fumarate hydratase-diminished cells.
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis.
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases.
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.
Fumarate hydratase-deficient renal cell carcinoma cells respond to asparagine by activation of the unfolded protein response and stimulation of the hexosamine biosynthetic pathway.
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation.
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature.
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature.
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma.
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Hereditary leiomyomatosis and renal cell carcinoma.
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Histopathological analysis of aggressive renal cell carcinoma harboring a unique germline mutation in fumarate hydratase.
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female.
MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile.
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Multifocal Renal Cell Carcinomas With Somatic IDH2 Mutation: Report of a Previously Undescribed Neoplasm.
Multiple hits for the association of uterine fibroids on human chromosome 1q43.
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
No germline FH mutations in familial breast cancer patients.
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Novel mutation in the fumarate hydratase gene in a patient with Reed syndrome.
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient.
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc.
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Pseudohypoxic pathways in renal cell carcinoma.
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Re-evaluation of 33 "Unclassified" Eosinophilic Renal Cell Carcinomas in Young Patients.
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Reductive carboxylation supports growth in tumour cells with defective mitochondria.
Reed's Syndrome: A Case of Multiple Cutaneous and Uterine Leiomyomas.
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells.
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
The clinical implications of the genetics of renal cell carcinoma.
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
The genetic basis of cancer of the kidney.
The genetics of uterine leiomyomata: what clinicians need to know.
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
The proto-oncometabolite fumarate binds glutathione to amplify ROS-dependent signaling.
The Succinated Proteome of FH-Mutant Tumours.
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase: A case report.
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
[Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].
[FH-deficient renal cell carcinoma expands the spectrum of renal papillary tumors].
[Hereditary kidney cancers: The pathologist's view in 2020].
[Hereditary renal cancer]
Cataract
Protective effects of ibuprofen and its major metabolites against in vitro inactivation of catalase and fumarase: relevance to cataract.
Cholera
Evidence that levels of malate dehydrogenase and fumarase are increased by cAMP in rat myotubes.
Chondroma
IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-hydroxymethylcytosine or altered histone modifications in central chondrosarcomas.
Chondrosarcoma
IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-hydroxymethylcytosine or altered histone modifications in central chondrosarcomas.
Cystadenoma
Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase.
mTORC1-driven accumulation of the oncometabolite fumarate as a potential critical step in renal cancer progression.
Cystadenoma, Mucinous
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Cysts
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
Effects of mebendazole, albendazole, and praziquantel on fumarate hydratase, pyruvate kinase, and phosphoenolpyruvate carboxykinase of Echinococcus granulosus cyst wall harbored in mice.
Fumarase deficiency presenting with periventricular cysts.
mTORC1-driven accumulation of the oncometabolite fumarate as a potential critical step in renal cancer progression.
Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling.
Sarcocystis fusiformis: some Krebs cycle enzymes in various fractions of sarcocysts of buffalo (Bubalus bubalis).
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
The emerging role of fumarate as an oncometabolite.
The succinated proteome.
Dehydration
A microcalorimetric sensor for food and cosmetic analyses: l-Malic acid determination.
Chicken fumarase. II. Kinetic studies.
Ethanolic dehydration and its effect on membrane-bound enzymes of Chlorogloeopsis fritschii and Chlorella pyrenoidosa.
Secondary isotope effects in the dehydration of malic acid by fumarate hydratase.
Diabetes Mellitus, Type 1
Hyperpolarized [1,4-13C]fumarate imaging detects microvascular complications and hypoxia mediated cell death in diabetic nephropathy.
Diabetes Mellitus, Type 2
Dysregulation of Glucagon Secretion by Hyperglycemia-Induced Sodium-Dependent Reduction of ATP Production.
Diabetic Nephropathies
Fumarate accumulation involved in renal diabetic fibrosis in Goto-Kakizaki rats.
dihydrolipoyl dehydrogenase deficiency
The expanding clinical spectrum of mitochondrial diseases.
Dystonia
Fumarase deficiency in dichorionic diamniotic twins.
Esthesioneuroblastoma, Olfactory
Durable Major Response With Pazopanib in Recurrent, Heavily Pretreated Metastatic Esthesioneuroblastoma Harboring a Fumarate Hydratase Mutation.
Friedreich Ataxia
Abnormalities of mitochondrial enzymes in hereditary ataxias.
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
fumarate hydratase deficiency
A fourth case of fumarase deficiency.
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency.
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.
Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.
Anaesthesia for patients with mitochondrial myopathy.
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Combined metabolomic and correlation networks analyses reveal fumarase insufficiency altered amino acid metabolism.
Congenital fumarase deficiency presenting with hypotonia and areflexia.
Defects of pyruvate metabolism and the Krebs cycle.
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Flux-balance analysis of mitochondrial energy metabolism: consequences of systemic stoichiometric constraints.
Fumarase Deficiency Associated With Non-Inflammatory Biliary Atresia.
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.
Fumarase deficiency in dichorionic diamniotic twins.
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes.
Fumarase deficiency presenting with periventricular cysts.
Fumarase deficiency.
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
Fumarate hydratase deficiency in monozygotic twins.
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
Fumarate hydratase deficiency.
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.
Fumaric aciduria: an overview and the first Brazilian case report.
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
Infantile Metabolic Encephalopathy Due to Fumarase Deficiency.
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Mild fumarase deficiency and a trial of low protein diet.
Mitochondrial myopathies.
Molecular analysis and prenatal diagnosis of human fumarase deficiency.
Molecular and biochemical investigations in fumarase deficiency.
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Structural basis of fumarate hydratase deficiency.
The expanding clinical spectrum of mitochondrial diseases.
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
The fumarase genes of Escherichia coli: location of the fumB gene and discovery of a new gene (fumC).
Uterine myomas: Clinical impact and pathophysiological bases.
Variability of clinical presentation in fumarate hydratase deficiency.
[Fumarase deficiency]
[Uterine leiomyoma with fumarate hydratase deficiency: a clinicopathological observation of 3 cases].
Genetic Diseases, Inborn
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Giant Axonal Neuropathy
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Glioblastoma
Biomarker discovery: a proteomic approach for brain cancer profiling.
Hepatitis
[Mitochondrial alterations in experimental hepatitis due to MHV 3 virus: activation and release of fumarase and rhodanese]
Hepatitis, Autoimmune
Fumarate hydratase-specific T cell response in Chinese patients with autoimmune hepatitis.
Hydrocephalus
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
hydroxymethylglutaryl-coa lyase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Hyperglycemia
Dysregulation of Glucagon Secretion by Hyperglycemia-Induced Sodium-Dependent Reduction of ATP Production.
Hypertension
Analysis of metabolites in plasma reveals distinct metabolic features between Dahl salt-sensitive rats and consomic SS.13(BN) rats.
Combined metabolomic and correlation networks analyses reveal fumarase insufficiency altered amino acid metabolism.
Elevation of fumarase attenuates hypertension and can result from a nonsynonymous sequence variation or increased expression depending on rat strain.
Fumarase Overexpression Abolishes Hypertension Attributable to endothelial NO synthase Haploinsufficiency in Dahl Salt-Sensitive Rats.
Fumarate exerted an antihypertensive effect and reduced kidney injury molecule (KIM)-1 expression in deoxycorticosterone acetate-salt hypertension.
Insufficient fumarase contributes to hypertension by an imbalance of redox metabolism in Dahl salt-sensitive rats.
Malate and Aspartate Increase L-Arginine and Nitric Oxide and Attenuate Hypertension.
Infections
iTRAQ-based proteomic profile analysis of ISKNV-infected CPB cells with emphasizing on glucose metabolism, apoptosis and autophagy pathways.
Infertility, Male
Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma.
The development of a qualitative assay for male infertility from a study of enzymes in human semen.
Insulin Resistance
Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis and Insulin Resistance.
Intellectual Disability
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Iron Deficiencies
Perturbation of mitochondrial composition in muscle by iron deficiency. Implications regarding regulation of mitochondrial assembly.
Kidney Neoplasms
Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer.
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Conventional renal cancer in a patient with fumarate hydratase mutation.
DisABLing kidney cancers caused by fumarate hydratase mutations.
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Fumarate hydratase as a therapeutic target in renal cancer.
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
Fumarate induces redox-dependent senescence by modifying glutathione metabolism.
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Fumarate Upregulates Surface Expression of ULBP2/ULBP5 by Scavenging Glutathione Antioxidant Capacity.
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Genetic basis of kidney cancer: role of genomics for the development of disease-based therapeutics.
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma.
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient.
HIF and fumarate hydratase in renal cancer.
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability.
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Perturbations in hypoxia detection: A shared link between hereditary and sporadic tumor formation?
Pheochromocytoma associated with cutaneous and uterine leiomyomatosis and renal cancer in a patient with a germline mutation in the fumarate hydratase gene.
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Targeting ABL1-mediated oxidative stress adaptation in fumarate hydratase-deficient cancer.
The metabolic basis of kidney cancer.
The Oncometabolite Fumarate Promotes Pseudohypoxia Through Noncanonical Activation of NF-?B Signaling.
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
[Hereditary renal cancer]
[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]
Leiomyoma
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Atypical Leiomyoma With Features Suggesting of Fumarate Hydratase Mutation.
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study.
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Family history of uterine fibroids associated with low level of fumarate hydratase in leiomyomata cells.
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Fumarate Hydratase Mutations and Alterations in Leiomyoma With Bizarre Nuclei.
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma.
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene.
Immunohistochemical Characterization of Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) in Cutaneous Leiomyomas for Detection of Familial Cancer Syndromes.
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Incidence, aetiology and epidemiology of uterine fibroids.
Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.
Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.
Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies.
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Leiomyoma with Bizarre Nuclei: a Study of 108 Cases Focusing on Clinicopathological Features, Morphology, and Fumarate Hydratase Alterations.
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas.
Mitochondrial mutations in cancer.
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Novel mutation in the fumarate hydratase gene in a patient with Reed syndrome.
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient.
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Systematic molecular and clinical analysis of uterine leiomyomas from fertile-aged women undergoing myomectomy.
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
The genetic basis of cancer of the kidney.
The genetics of uterine leiomyomata: what clinicians need to know.
Two Subtypes of Atypical Leiomyoma: Clinical, Histologic, and Molecular Analysis.
Uterine myomas: Clinical impact and pathophysiological bases.
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
[A special uterine leiomyoma].
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
[Genetic factors in etiology of uterine fibroids].
[Uterine leiomyoma and fumarate hydratase deficiency].
[Uterine leiomyoma with fumarate hydratase deficiency: a clinicopathological observation of 3 cases].
Leiomyomatosis
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.
A case report of hereditary leiomyomatosis and renal cell cancer.
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinoma.
A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
Activated Thiol Sepharose-based proteomic approach to quantify reversible protein oxidation.
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance.
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients.
Bioorthogonal oncometabolite ligation.
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Co-opting a Bioorthogonal Reaction for Oncometabolite Detection.
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.
Conventional renal cancer in a patient with fumarate hydratase mutation.
CUL3 and NRF2 Mutations Confer an NRF2 Activation Phenotype in a Sporadic Form of Papillary Renal Cell Carcinoma.
Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumarate hydratase.
Cutaneous leiomyomatosis in a mother and daughter.
Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas.
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Direct and quantitative analysis of altered metabolic flux distributions and cellular ATP production pathway in fumarate hydratase-diminished cells.
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.
Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis.
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation.
Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases.
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening.
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.
Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.
Fumarate hydratase-deficient renal cell carcinoma cells respond to asparagine by activation of the unfolded protein response and stimulation of the hexosamine biosynthetic pathway.
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation.
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature.
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature.
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma.
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-associated Renal Cancer: Recognition of the Syndrome by Pathologic Features and the Utility of Detecting Aberrant Succination by Immunohistochemistry.
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.
Hereditary leiomyomatosis and renal cell carcinoma.
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome).
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
Incidence, aetiology and epidemiology of uterine fibroids.
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.
Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.
Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation.
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female.
MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile.
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene.
Multiple hits for the association of uterine fibroids on human chromosome 1q43.
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
No germline FH mutations in familial breast cancer patients.
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Pheochromocytoma associated with cutaneous and uterine leiomyomatosis and renal cancer in a patient with a germline mutation in the fumarate hydratase gene.
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Proteasome inhibition disrupts the metabolism of fumarate hydratase- deficient tumors by downregulating p62 and c-Myc.
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Reed's Syndrome: A Case of Multiple Cutaneous and Uterine Leiomyomas.
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis.
Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
The clinical implications of the genetics of renal cell carcinoma.
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
The genetics of uterine leiomyomata: what clinicians need to know.
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
The Oncometabolite Fumarate Promotes Pseudohypoxia Through Noncanonical Activation of NF-?B Signaling.
The Succinated Proteome of FH-Mutant Tumours.
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.
Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase: A case report.
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
[Development of human renal cell carcinoma (RCC)--the responsible genes for the development of hereditary and sporadic human RCCs]
[Hereditary kidney cancers: The pathologist's view in 2020].
[Hereditary leiomyomatosis syndrome associated with renal cell carcinoma. A case report].
[Hereditary renal cancer]
[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]
Leiomyosarcoma
Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer.
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of fumarate hydratase gene.
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
Leishmaniasis
Structural and Biochemical Investigations of the [4Fe-4S] Cluster-Containing Fumarate Hydratase from Leishmania major.
Leukopenia
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Lung Neoplasms
Bioinformatics analysis and expression study of fumarate hydratase in lung cancer.
PAK4 phosphorylates fumarase and blocks TGF-?-induced cell growth arrest in lung cancer cells.
Malaria
Biochemical characterization and essentiality of Plasmodium fumarate hydratase.
Suppression of experimental cerebral malaria by disruption of malate:quinone oxidoreductase.
Malnutrition
Undernutrition upregulates fumarate hydratase in the rat nucleus accumbens.
Melanoma
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Metabolic Diseases
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.
The metabolic basis of kidney cancer.
Mevalonate Kinase Deficiency
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Microcephaly
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Fumarase deficiency in dichorionic diamniotic twins.
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Mitochondrial Encephalomyopathies
Anaesthesia for patients with mitochondrial myopathy.
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
Mitochondrial Myopathies
Mitochondrial myopathies.
Multiple Carboxylase Deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Multiple Endocrine Neoplasia
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Multiple Endocrine Neoplasia Type 1
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Muscle Hypotonia
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.
Congenital fumarase deficiency presenting with hypotonia and areflexia.
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
Fumarate hydratase deficiency in monozygotic twins.
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Molecular and biochemical investigations in fumarase deficiency.
Muscle Neoplasms
Fumarate Hydratase Expression is Retained in Atypical Intradermal Smooth Muscle Neoplasms and Cutaneous Leiomyosarcomas.
Myxoma
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma.
Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma".
Response to Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patients With Cortisol-Secreting Adrenocortical Adenoma".
Neoplasm Metastasis
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Transketolase regulates the metabolic switch to control breast cancer cell metastasis via the alpha-ketoglutarate signaling pathway.
Neoplasms
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.
A case report of hereditary leiomyomatosis and renal cell cancer.
A novel fumarate hydratase-deficient HLRCC kidney cancer cell line, UOK268: a model of the Warburg effect in cancer.
A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia.
A two-dimensional screen for AMPK substrates identifies tumor suppressor fumarate hydratase as a preferential AMPK?2 substrate.
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.
Acquired Cystic Disease-associated Renal Cell Carcinoma (ACD-RCC): A Multiinstitutional Study of 40 Cases With Clinical Follow-up.
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.
Ancillary studies in fine needle aspiration of the kidney.
Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer.
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Bioinformatics analysis and expression study of fumarate hydratase in lung cancer.
Bioorthogonal oncometabolite ligation.
Cancer and Altered Metabolism: Potential Importance of Hypoxia-Inducible Factor and 2-Oxoglutarate-Dependent Dioxygenases.
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
Cell-permeating alpha-ketoglutarate derivatives alleviate pseudohypoxia in succinate dehydrogenase-deficient cells.
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism.
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Chromatin remodeling factor LSH affects fumarate hydratase as a cancer driver.
Chromatin Remodeling Factor LSH Drives Cancer Progression by Suppressing the Activity of Fumarate Hydratase.
Chromatographic methods coupled to mass spectrometry for the determination of oncometabolites in biological samples-A review.
Chromophobe renal cell carcinoma: current and controversial issues.
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
Co-opting a Bioorthogonal Reaction for Oncometabolite Detection.
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study.
Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.
Contemporary Characterization and Recategorization of Adult Unclassified Renal Cell Carcinoma.
Conventional renal cancer in a patient with fumarate hydratase mutation.
Cutaneous leiomyomatosis in a mother and daughter.
Deep epistasis in human metabolism.
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Direct and quantitative analysis of altered metabolic flux distributions and cellular ATP production pathway in fumarate hydratase-diminished cells.
DisABLing kidney cancers caused by fumarate hydratase mutations.
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer.
Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas.
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.
Erratum to: Chromatin remodeling factor LSH affects fumarate hydratase as a cancer driver.
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC).
Exploring the Allosteric Territory of Protein Function.
Familial leiomyomatosis cutis et uteri.
Familial leiomyomatosis: a review and discussion of pathogenesis.
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
Fumarase activity: an in vivo and in vitro biomarker for acute kidney injury.
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.
Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.
Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases.
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response.
Fumarase: From the TCA Cycle to DNA Damage Response and Tumor Suppression.
Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome.
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling?
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.
Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer.
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.
Fumarate hydratase in cancer: A multifaceted tumour suppressor.
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Fumarate hydratase inactivation in renal tumors: HIF1?, NRF2, and "cryptic targets" of transcription factors.
Fumarate Hydratase Loss Causes Combined Respiratory Chain Defects.
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
Fumarate Hydratase Mutations and Alterations in Leiomyoma With Bizarre Nuclei.
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans.
Genetic alterations in Krebs cycle and its impact on cancer pathogenesis.
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Genetically-defined metabolic reprogramming in cancer.
Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): Case series and review of the literature.
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance.
Hereditary leiomyomatosis and renal cell cancer syndrome - case report and review of the literature.
Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair.
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review.
Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings.
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma.
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.
Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC): A Rapid Autopsy Report of Metastatic Renal Cell Carcinoma.
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
Heterogeneous adaptation of cysteine reactivity to a covalent oncometabolite.
Hydrophilic interaction liquid chromatography coupled with MS/MS to detect and quantify dicarboxyethyl glutathione, a metabolic biomarker of the fumarate hydratase deficient cancer cell.
Identification of Activators of Human Fumarate Hydratase by Quantitative High-Throughput Screening.
Identification of zebrafish fumarate hydratase active site by molecular docking and simulation studies.
Immunohistochemical Characterization of Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) in Cutaneous Leiomyomas for Detection of Familial Cancer Syndromes.
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Inhibition of ?-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.
Inhibition of mitochondrial aconitase by succination in fumarate hydratase deficiency.
Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.
Isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), fumarate hydratase (FH): three players for one phenotype in cancer?
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer.
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.
Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma.
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Mitochondria in cancer: at the crossroads of life and death.
Mitochondrial complex I is deficient in renal oncocytomas.
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Mitochondrial dysfunctions in cancer: Genetic defects and oncogenic signaling impinging on TCA cycle activity.
Mitochondrial mutations in cancer.
Modeling tumor predisposing FH mutations in yeast: Effects on fumarase activity, growth phenotype and gene expression profile.
Multifocal Renal Cell Carcinomas With Somatic IDH2 Mutation: Report of a Previously Undescribed Neoplasm.
Multiple Cutaneous and Uterine Leiomyomatosis or Reed Syndrome: A Retrospective Study of 13 Cases.
Multiple hits for the association of uterine fibroids on human chromosome 1q43.
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
New HIF2? inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
Next generation immunohistochemistry: Emerging substitutes to genetic testing?
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas.
No evidence for promoter region methylation of the succinate dehydrogenase and fumarate hydratase tumour suppressor genes in breast cancer.
No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas.
No germline FH mutations in familial breast cancer patients.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient.
Nrf2 gene mutation and single nucleotide polymorphism rs6721961 of the Nrf2 promoter region in renal cell cancer.
O-GlcNAcylation of fumarase maintains tumour growth under glucose deficiency.
ONC201 kills breast cancer cells in vitro by targeting mitochondria.
Oncometabolite Accumulation and Epithelial-to-Mesenchymal Transition: The Turn of Fumarate.
Oncometabolites in cancer aggressiveness and tumour repopulation.
Oncometabolites suppress DNA repair by disrupting local chromatin signalling.
Oncometabolites-driven tumorigenesis: From genetics to targeted therapy.
Oncometabolites: tailoring our genes.
PAK4 phosphorylates fumarase and blocks TGF-?-induced cell growth arrest in lung cancer cells.
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
Post-translational Modifications of Fumarase Regulate its Enzyme Activity and Function in Respiration and the DNA Damage Response.
Post-translational regulation of metabolism in fumarate hydratase deficient cancer cells.
Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients.
Promoter hypermethylation profile of kidney cancer.
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report.
Rare insights into cancer biology.
Re: Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase.
Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2? accumulation and promotes migration and invasion.
Reed's Syndrome.
Reed's Syndrome: A Case of Multiple Cutaneous and Uterine Leiomyomas.
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.
Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling.
Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes.
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells.
Review: Warburg effect and renal cancer caused by errs in fumarate hydratase encoding gene.
Revisiting the TCA cycle: signaling to tumor formation.
Role of Mitochondria in Ferroptosis.
Role of mitochondrial dysfunction in cancer progression.
Role of mitochondrial mutations in cancer.
Seeing the smoking gun: a sensitive and specific method to visualize loss of the tumour suppressor, fumarate hydratase, in human tissues.
Sub-minute kinetics of human red cell fumarase:
Subcellular localization of fumarase in mammalian cells and tissues.
Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer.
Succination of Keap1 and activation of Nrf2-dependent antioxidant pathways in FH-deficient papillary renal cell carcinoma type 2.
Suppression of fumarate hydratase activity increases the efficacy of cisplatin-mediated chemotherapy in gastric cancer.
Systematic molecular and clinical analysis of uterine leiomyomas from fertile-aged women undergoing myomectomy.
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway.
Targeting cancer metabolism.
TCA Cycle Defects and Cancer: When Metabolism Tunes Redox State.
The clinical implications of the genetics of renal cell carcinoma.
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma.
The emerging role of fumarate as an oncometabolite.
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
The functional roles of TCA cycle metabolites in cancer.
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.
The proto-oncometabolite fumarate binds glutathione to amplify ROS-dependent signaling.
The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.
The Succinated Proteome of FH-Mutant Tumours.
The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.
Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.
Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.
Transketolase regulates the metabolic switch to control breast cancer cell metastasis via the alpha-ketoglutarate signaling pathway.
Two Subtypes of Atypical Leiomyoma: Clinical, Histologic, and Molecular Analysis.
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma.
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
[Atypical leiomyoma in a patient with cutaneous leiomyomatosis and mutation of the enzyme fumarate hydratase].
[Clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma].
[Hereditary renal cancer]
[Molecular biology of renal cancer: bases for genetic directed therapy in advanced disease].
[Proteome study of colorectal cancer genesis and hepatic metastasis]
Neoplastic Syndromes, Hereditary
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction.
Fumarate mediates a chronic proliferative signal in fumarate hydratase inactivated cancer cells by increasing transcription and translation of ferritin genes.
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Nervous System Neoplasms
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Neuroblastoma
Altered enzyme expression in "differentiated" murine neuroblastoma cells.
Neurodegenerative Diseases
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Neurofibromatoses
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation.
Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis.
Neurofibromatosis 1
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Leiomyomatosis developed in a patient of neurofibromatosis type 1 with fumarate hydratase gene mutation.
Neutropenia
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Obesity
Adipose-Specific Deficiency of Fumarate Hydratase in Mice Protects Against Obesity, Hepatic Steatosis and Insulin Resistance.
Hepatic miR-144 drives fumarase activity preventing NRF2 activation during obesity.
Olivopontocerebellar Atrophies
Abnormalities of mitochondrial enzymes in hereditary ataxias.
oxoglutarate dehydrogenase (succinyl-transferring) deficiency
The expanding clinical spectrum of mitochondrial diseases.
Pancreatic Neoplasms
Cancer-associated fibroblasts enhance pancreatic cancer cell invasion by remodeling the metabolic conversion mechanism.
Paraganglioma
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Mitochondrial mutations in cancer.
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Paraplegia
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
peptidyl-glutamate 4-carboxylase deficiency
Defects of pyruvate metabolism and the Krebs cycle.
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Perivascular Epithelioid Cell Neoplasms
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study.
Phenylketonurias
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Pheochromocytoma
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NATIONAL INSTITUTES OF HEALTH STUDY.
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Pheochromocytoma associated with cutaneous and uterine leiomyomatosis and renal cancer in a patient with a germline mutation in the fumarate hydratase gene.
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Polycythemia
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Polyhydramnios
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Polyneuropathies
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Propionic Acidemia
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Prostatic Neoplasms
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
No fumarate hydratase (FH) mutations in hereditary prostate cancer.
Nuclear ARRB1 induces pseudohypoxia and cellular metabolism reprogramming in prostate cancer.
Protein Deficiency
Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia.
Pyruvate Dehydrogenase Complex Deficiency Disease
Mitochondrial myopathies.
Retinoblastoma
MED12 exon 2 mutation is uncommon in intravenous leiomyomatosis: clinicopathologic features and molecular study.
Seizures
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.
Fumarase deficiency in dichorionic diamniotic twins.
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
Molecular and biochemical investigations in fumarase deficiency.
Structural basis of fumarate hydratase deficiency.
Smooth Muscle Tumor
Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Fumarate Hydratase Deficiency Should be Considered in the Differential Diagnosis of Uterine and Extrauterine Smooth Muscle Tumors of Uncertain Malignant Potential (STUMP).
Fumarate Hydratase Mutations and Alterations in Leiomyoma With Bizarre Nuclei.
Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer.
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening.
Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Reed's Syndrome: A Case of Multiple Cutaneous and Uterine Leiomyomas.
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.
Spasms, Infantile
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
Spinocerebellar Ataxias
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Starvation
Stability of enzymes in starving Arthrobacter crystallopoietes.
Stomach Neoplasms
Suppression of fumarate hydratase activity increases the efficacy of cisplatin-mediated chemotherapy in gastric cancer.
Thrombosis
Down-regulation of metabolic proteins in hepatocellular carcinoma with portal vein thrombosis.
Tuberculosis
Changing the Rules of TB-Drug Discovery.
Conformational changes upon ligand binding in the essential class II fumarase Rv1098c from Mycobacterium tuberculosis.
Elevation of Fumarate Levels Compromise Redox Control and Viability in Mycobacterium tuberculosis.
Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.
Selective small molecule inhibitor of the Mycobacterium tuberculosis fumarate hydratase reveals an allosteric regulatory site.
Targeting of fumarate hydratase from Mycobacterium tuberculosis using allosteric inhibitors with a dimeric-binding mode.
Typhus, Epidemic Louse-Borne
Structure of fumarate hydratase from Rickettsia prowazekii, the agent of typhus and suspected relative of the mitochondria.